Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
NM_020888.3
p.R255H
c.764G>A
NM_020888.3
p.M291V
c.871A>G
NM_020888.3
p.S632C
c.1895C>G
NM_020888.3
p.K231E
c.691A>G
NM_020888.3
p.L278L
c.832C>T
NM_020888.3
p.S444N
c.1331G>A
NM_020888.3
p.R479Q
c.1436G>A
NM_020888.3
p.A691G
c.2072C>G
NM_020888.3
p.S1038P
c.3112T>C
NM_020888.3
p.S1040_Y1041delFs
c.3118_3122del5
NM_020888.3
p.A3V
c.8C>T
NM_020888.3
p.A5A
c.15G>A